\contentsline {section}{Signature Page}{i}
\contentsline {section}{Table of Contents}{iv}
\contentsline {section}{List of Figures}{v}
\contentsline {section}{List of Tables}{vi}
\contentsline {chapter}{\numberline {1}Introduction}{1}
\contentsline {section}{\numberline {1.1}Motivations and Goals}{2}
\contentsline {section}{\numberline {1.2}Contributions}{3}
\contentsline {section}{\numberline {1.3}Thesis Structure}{3}
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\contentsline {chapter}{\numberline {2}Background}{5}
\contentsline {section}{\numberline {2.1}Ethnic Background}{5}
\contentsline {section}{\numberline {2.2}Related Works on Human Mutation}{5}
\contentsline {section}{\numberline {2.3}Related Works on Human Mutation Database and LSDB}{7}
\contentsline {section}{\numberline {2.4}Related Works on standard human mutation nomenclature}{13}
\contentsline {subsection}{\numberline {2.4.1}Reference Sequence}{14}
\contentsline {subsection}{\numberline {2.4.2}Discrimination Between DNA, RNA, and Protein}{16}
\contentsline {subsection}{\numberline {2.4.3}Types of Variants: Descriptions}{17}
\contentsline {section}{\numberline {2.5}Related Works on software that generate standard nomenclature}{19}
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\contentsline {chapter}{\numberline {3}Establishing The Ethnic human mutation database}{23}
\contentsline {section}{\numberline {3.1}System Design and Implementation}{23}
\contentsline {section}{\numberline {3.2}Database Access}{26}
\contentsline {section}{\numberline {3.3}Querying The Database}{27}
\contentsline {section}{\numberline {3.4}Data Submission}{28}
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